Zhang YY, Zhao YC, Chen LP, Yu HL. Isolated congenital asplenia with cryptogenic liver fibrosis and a novel SON variant: A case report. World J Gastrointest Surg 2026; 18(10): 123604 [DOI: 10.4240/wjgs.123604]
Corresponding Author of This Article
Hui-Ling Yu, PhD, Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Hankou, Wuhan 430030, Hubei Province, China. y654au@126.com
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
case-report
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Zhang YY, Zhao YC, Chen LP, Yu HL. Isolated congenital asplenia with cryptogenic liver fibrosis and a novel SON variant: A case report. World J Gastrointest Surg 2026; 18(10): 123604 [DOI: 10.4240/wjgs.123604]
Yan-Yan Zhang, Yu-Chong Zhao, Li-Ping Chen, Department of Gastroenterology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China
Hui-Ling Yu, Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China
Hui-Ling Yu, Department of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China
Author contributions: Zhang YY was responsible for the study conception and design, data acquisition, and drafting of the initial manuscript; Zhao YC and Chen LP participated in reviewing and critically revising the manuscript for important intellectual content; Yu HL contributed to the development of the methodology, investigation, and overall supervision of the research project. All authors reviewed the results and approved the final version of the manuscript for publication.
AI contribution statement: During the preparation of this work, the authors used ChatGPT to improve language and readability during manuscript revision. After using this tool, the authors carefully reviewed and edited the content as needed and take full responsibility for the final content of the publication.
Supported by Hubei Association of Pathophysiology Research Fund, No. 2025HBAP026; and Inflammatory Bowel Disease Young Physician Research Fund.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Hui-Ling Yu, PhD, Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Hankou, Wuhan 430030, Hubei Province, China. y654au@126.com
Received: May 29, 2026 Revised: June 27, 2026 Accepted: July 16, 2026 Published online: October 27, 2026 Processing time: 133 Days and 19.9 Hours
Abstract
BACKGROUND
Isolated congenital asplenia (ICA) is a rare life-threatening condition with an elusive genetic etiology. We report a patient with ICA carrying a novel heterozygous SON gene variant, which may provide a hypothesis-generating clue regarding the genetic basis of ICA.
CASE SUMMARY
A 33-year-old man presented with bilateral leg edema. Imaging indicated liver cirrhosis, ascites, and incidental absence of the spleen without a history of splenectomy. Extensive etiological evaluation was unremarkable. Whole-exome sequencing identified a novel heterozygous SON variant of uncertain significance (VUS) that had not been previously associated with asplenia. Liver biopsy showed fibrosis without definitive features of advanced cirrhosis. Notably, the patient did not experience life-threatening infections despite marked asplenia, suggesting possible adaptive immune compensation; however, this remains speculative.
CONCLUSION
This case identifies a novel SON gene VUS associated with ICA; however, its pathogenicity remains uncertain. This finding should be interpreted as a hypothesis-generating clue and does not establish a causal relationship between SON and ICA. Further functional studies and long-term follow-up are required to clarify the underlying mechanisms.
Core Tip: This case report describes a 33-year-old man with isolated congenital asplenia (ICA) who carries a novel heterozygous SON gene variant, providing a hypothesis-generating clue regarding the genetic basis of ICA. This case highlights the critical challenge of interpreting novel genetic findings in rare congenital anomalies and underscores the need for further studies to elucidate the potential biological significance of SON variants in human disease.
